Technologie génétique

Abstrait

Researching Novel Variants in Endometriosis using Next Generation Sequencing Variant Analysis

Shambo Datta, Manisha Rana

Endometriosis is characterized as the presence of ectopic endometrial tissue outside of the uterine, most generally in the ovaries and peritoneum. It is an illness that is impacted by various elements. It is additionally a typical gynaecological confusion and influences roughly 10-15% of all women of regenerative age. Later molecular and pathological examinations demonstrate that endometriosis may fill in as an antecedent of ovarian malignant growth (endometriosis associated ovarian disease, EAOC), especially endometrioid furthermore, clear cell ovarian malignant growths. Albeit histological and epidemiological investigations have shown that endometriosis has a malignant potential, the molecular component that underlies the harmful change of endometriosis is as yet questionable, and the exact component of carcinogenesis must be completely illustrated. At present, the advancement and improvement of another sequencing innovation, next-generation sequencing (NGS), has been progressively significant in malignant growth genomics examine. Lately, NGS has likewise been used in clinical oncology to propel the customized treatment of malignancy. Also, the affectability, speed, and cost make NGS a profoundly alluring stage contrasted with other sequencing modalities. Thus, NGS may lead to the recognizable proof of driver mutations and fundamental pathways related with EAOC. Our sole motivation behind the study was to decipher new variants if any and report any unreported variants identified with genes. We have performed a variant analysis investigation with the assistance of Next Generation Sequencing GALAXY device accessible on the web.